TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

• প্রধান লেখক: Leman Kayaş (লেখক), Emine Çamtosun (লেখক), Ayşehan Akıncı (লেখক), Rıfat Bircan (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Galenos Yayincilik, 2022-03-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

An activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital...